RFC1 (replication factor C subunit 1)

Gene

• Entrez ID: 5981
• Gene name: Replication factor C subunit 1
• Gene symbol: RFC1
• Synonyms (NCBI Gene): A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC, RFC140
• Disease Acronyms (UniProt): CANVAS
• Chromosome: 4
• Chromosome location: 4p14
• Summary: This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, bi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046779	hsa-miR-222-3p	CLASH	23622248
MIRT042834	hsa-miR-324-3p	CLASH	23622248
MIRT439781	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439781	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1301486	hsa-let-7a	CLIP-seq
MIRT1301487	hsa-let-7b	CLIP-seq
MIRT1301488	hsa-let-7c	CLIP-seq
MIRT1301489	hsa-let-7d	CLIP-seq
MIRT1301490	hsa-let-7e	CLIP-seq
MIRT1301491	hsa-let-7f	CLIP-seq
MIRT1301492	hsa-let-7g	CLIP-seq
MIRT1301493	hsa-let-7i	CLIP-seq
MIRT1301494	hsa-miR-3144-3p	CLIP-seq
MIRT1301495	hsa-miR-3145-5p	CLIP-seq
MIRT1301496	hsa-miR-3190	CLIP-seq
MIRT1301497	hsa-miR-345	CLIP-seq
MIRT1301498	hsa-miR-3934	CLIP-seq
MIRT1301499	hsa-miR-4257	CLIP-seq
MIRT1301500	hsa-miR-4436a	CLIP-seq
MIRT1301501	hsa-miR-4458	CLIP-seq
MIRT1301502	hsa-miR-4500	CLIP-seq
MIRT1301503	hsa-miR-4700-3p	CLIP-seq
MIRT1301504	hsa-miR-4703-3p	CLIP-seq
MIRT1301505	hsa-miR-4726-3p	CLIP-seq
MIRT1301506	hsa-miR-4752	CLIP-seq
MIRT1301507	hsa-miR-4777-3p	CLIP-seq
MIRT1301508	hsa-miR-4786-3p	CLIP-seq
MIRT1301509	hsa-miR-513a-5p	CLIP-seq
MIRT1301510	hsa-miR-671-5p	CLIP-seq
MIRT1301511	hsa-miR-875-5p	CLIP-seq
MIRT1301512	hsa-miR-98	CLIP-seq
MIRT1301513	hsa-miR-1278	CLIP-seq
MIRT1301514	hsa-miR-1283	CLIP-seq
MIRT1301515	hsa-miR-139-5p	CLIP-seq
MIRT1301516	hsa-miR-1915	CLIP-seq
MIRT1301517	hsa-miR-2053	CLIP-seq
MIRT1301518	hsa-miR-28-3p	CLIP-seq
MIRT1301519	hsa-miR-3155	CLIP-seq
MIRT1301520	hsa-miR-3155b	CLIP-seq
MIRT1301498	hsa-miR-3934	CLIP-seq
MIRT1301521	hsa-miR-4528	CLIP-seq
MIRT1301504	hsa-miR-4703-3p	CLIP-seq
MIRT1301505	hsa-miR-4726-3p	CLIP-seq
MIRT1301522	hsa-miR-484	CLIP-seq
MIRT1301515	hsa-miR-139-5p	CLIP-seq
MIRT2089500	hsa-miR-1910	CLIP-seq
MIRT1301495	hsa-miR-3145-5p	CLIP-seq
MIRT2089501	hsa-miR-3148	CLIP-seq
MIRT2089502	hsa-miR-3153	CLIP-seq
MIRT2089503	hsa-miR-3192	CLIP-seq
MIRT2089504	hsa-miR-3194-3p	CLIP-seq
MIRT2089505	hsa-miR-326	CLIP-seq
MIRT2089506	hsa-miR-330-5p	CLIP-seq
MIRT1301497	hsa-miR-345	CLIP-seq
MIRT2089507	hsa-miR-3663-5p	CLIP-seq
MIRT2089508	hsa-miR-3672	CLIP-seq
MIRT1301498	hsa-miR-3934	CLIP-seq
MIRT2089509	hsa-miR-3940-5p	CLIP-seq
MIRT2089510	hsa-miR-4274	CLIP-seq
MIRT2089511	hsa-miR-4314	CLIP-seq
MIRT2089512	hsa-miR-4507	CLIP-seq
MIRT2089513	hsa-miR-4527	CLIP-seq
MIRT2089514	hsa-miR-4539	CLIP-seq
MIRT2089515	hsa-miR-4646-5p	CLIP-seq
MIRT2089516	hsa-miR-4668-5p	CLIP-seq
MIRT1301504	hsa-miR-4703-3p	CLIP-seq
MIRT1301505	hsa-miR-4726-3p	CLIP-seq
MIRT2089517	hsa-miR-4789-3p	CLIP-seq
MIRT2089518	hsa-miR-579	CLIP-seq
MIRT2089519	hsa-miR-582-5p	CLIP-seq
MIRT2610807	hsa-miR-1184	CLIP-seq
MIRT2610808	hsa-miR-1205	CLIP-seq
MIRT2610809	hsa-miR-134	CLIP-seq
MIRT1301515	hsa-miR-139-5p	CLIP-seq
MIRT2610810	hsa-miR-186	CLIP-seq
MIRT2089500	hsa-miR-1910	CLIP-seq
MIRT2610811	hsa-miR-1912	CLIP-seq
MIRT2610812	hsa-miR-197	CLIP-seq
MIRT2610813	hsa-miR-2052	CLIP-seq
MIRT2610814	hsa-miR-217	CLIP-seq
MIRT2610815	hsa-miR-3118	CLIP-seq
MIRT2610816	hsa-miR-3130-5p	CLIP-seq
MIRT1301495	hsa-miR-3145-5p	CLIP-seq
MIRT2610817	hsa-miR-3149	CLIP-seq
MIRT2610818	hsa-miR-3158-5p	CLIP-seq
MIRT2610819	hsa-miR-3168	CLIP-seq
MIRT2610820	hsa-miR-3177-5p	CLIP-seq
MIRT2610821	hsa-miR-3182	CLIP-seq
MIRT2610822	hsa-miR-3189-5p	CLIP-seq
MIRT2089507	hsa-miR-3663-5p	CLIP-seq
MIRT2089508	hsa-miR-3672	CLIP-seq
MIRT2610823	hsa-miR-3685	CLIP-seq
MIRT2610824	hsa-miR-377	CLIP-seq
MIRT2610825	hsa-miR-3914	CLIP-seq
MIRT1301498	hsa-miR-3934	CLIP-seq
MIRT2089509	hsa-miR-3940-5p	CLIP-seq
MIRT2610826	hsa-miR-3943	CLIP-seq
MIRT2610827	hsa-miR-4251	CLIP-seq
MIRT2089510	hsa-miR-4274	CLIP-seq
MIRT2610828	hsa-miR-4277	CLIP-seq
MIRT2610829	hsa-miR-4282	CLIP-seq
MIRT2610830	hsa-miR-4307	CLIP-seq
MIRT2610831	hsa-miR-4323	CLIP-seq
MIRT2610832	hsa-miR-4329	CLIP-seq
MIRT2610833	hsa-miR-4482	CLIP-seq
MIRT2089512	hsa-miR-4507	CLIP-seq
MIRT2610834	hsa-miR-450b-5p	CLIP-seq
MIRT2610835	hsa-miR-452	CLIP-seq
MIRT2089513	hsa-miR-4527	CLIP-seq
MIRT2089514	hsa-miR-4539	CLIP-seq
MIRT2610836	hsa-miR-4676-3p	CLIP-seq
MIRT2610837	hsa-miR-4699-3p	CLIP-seq
MIRT1301504	hsa-miR-4703-3p	CLIP-seq
MIRT2610838	hsa-miR-4714-3p	CLIP-seq
MIRT1301505	hsa-miR-4726-3p	CLIP-seq
MIRT2610839	hsa-miR-4729	CLIP-seq
MIRT2610840	hsa-miR-4751	CLIP-seq
MIRT2610841	hsa-miR-508-5p	CLIP-seq
MIRT2610842	hsa-miR-5096	CLIP-seq
MIRT2610843	hsa-miR-513a-3p	CLIP-seq
MIRT2610844	hsa-miR-518a-5p	CLIP-seq
MIRT2610845	hsa-miR-520d-5p	CLIP-seq
MIRT2610846	hsa-miR-524-5p	CLIP-seq
MIRT2610847	hsa-miR-527	CLIP-seq
MIRT2610848	hsa-miR-544	CLIP-seq
MIRT2610849	hsa-miR-568	CLIP-seq
MIRT2089518	hsa-miR-579	CLIP-seq
MIRT2610850	hsa-miR-580	CLIP-seq
MIRT2610851	hsa-miR-654-3p	CLIP-seq
MIRT2610852	hsa-miR-711	CLIP-seq
MIRT2610853	hsa-miR-765	CLIP-seq
MIRT2610854	hsa-miR-767-3p	CLIP-seq
MIRT2610855	hsa-miR-943	CLIP-seq
MIRT2610807	hsa-miR-1184	CLIP-seq
MIRT2610808	hsa-miR-1205	CLIP-seq
MIRT2610809	hsa-miR-134	CLIP-seq
MIRT1301515	hsa-miR-139-5p	CLIP-seq
MIRT2610810	hsa-miR-186	CLIP-seq
MIRT2089500	hsa-miR-1910	CLIP-seq
MIRT2610811	hsa-miR-1912	CLIP-seq
MIRT2610812	hsa-miR-197	CLIP-seq
MIRT2610813	hsa-miR-2052	CLIP-seq
MIRT2610815	hsa-miR-3118	CLIP-seq
MIRT2610816	hsa-miR-3130-5p	CLIP-seq
MIRT1301495	hsa-miR-3145-5p	CLIP-seq
MIRT2610817	hsa-miR-3149	CLIP-seq
MIRT2610818	hsa-miR-3158-5p	CLIP-seq
MIRT2610819	hsa-miR-3168	CLIP-seq
MIRT2610820	hsa-miR-3177-5p	CLIP-seq
MIRT2610821	hsa-miR-3182	CLIP-seq
MIRT2610822	hsa-miR-3189-5p	CLIP-seq
MIRT2089507	hsa-miR-3663-5p	CLIP-seq
MIRT2089508	hsa-miR-3672	CLIP-seq
MIRT2610823	hsa-miR-3685	CLIP-seq
MIRT2610824	hsa-miR-377	CLIP-seq
MIRT2610825	hsa-miR-3914	CLIP-seq
MIRT1301498	hsa-miR-3934	CLIP-seq
MIRT2089509	hsa-miR-3940-5p	CLIP-seq
MIRT2610826	hsa-miR-3943	CLIP-seq
MIRT2610827	hsa-miR-4251	CLIP-seq
MIRT2089510	hsa-miR-4274	CLIP-seq
MIRT2610828	hsa-miR-4277	CLIP-seq
MIRT2610829	hsa-miR-4282	CLIP-seq
MIRT2610830	hsa-miR-4307	CLIP-seq
MIRT2610831	hsa-miR-4323	CLIP-seq
MIRT2610832	hsa-miR-4329	CLIP-seq
MIRT2610833	hsa-miR-4482	CLIP-seq
MIRT2089512	hsa-miR-4507	CLIP-seq
MIRT2610834	hsa-miR-450b-5p	CLIP-seq
MIRT2610835	hsa-miR-452	CLIP-seq
MIRT2089513	hsa-miR-4527	CLIP-seq
MIRT2089514	hsa-miR-4539	CLIP-seq
MIRT2610836	hsa-miR-4676-3p	CLIP-seq
MIRT2610837	hsa-miR-4699-3p	CLIP-seq
MIRT1301504	hsa-miR-4703-3p	CLIP-seq
MIRT2610838	hsa-miR-4714-3p	CLIP-seq
MIRT1301505	hsa-miR-4726-3p	CLIP-seq
MIRT2610839	hsa-miR-4729	CLIP-seq
MIRT2689674	hsa-miR-4735-5p	CLIP-seq
MIRT2610840	hsa-miR-4751	CLIP-seq
MIRT2689675	hsa-miR-488	CLIP-seq
MIRT2610841	hsa-miR-508-5p	CLIP-seq
MIRT2610842	hsa-miR-5096	CLIP-seq
MIRT2610843	hsa-miR-513a-3p	CLIP-seq
MIRT2610844	hsa-miR-518a-5p	CLIP-seq
MIRT2610845	hsa-miR-520d-5p	CLIP-seq
MIRT2610846	hsa-miR-524-5p	CLIP-seq
MIRT2610847	hsa-miR-527	CLIP-seq
MIRT2610848	hsa-miR-544	CLIP-seq
MIRT2610849	hsa-miR-568	CLIP-seq
MIRT2089518	hsa-miR-579	CLIP-seq
MIRT2610850	hsa-miR-580	CLIP-seq
MIRT2610851	hsa-miR-654-3p	CLIP-seq
MIRT2610852	hsa-miR-711	CLIP-seq
MIRT2610853	hsa-miR-765	CLIP-seq
MIRT2610854	hsa-miR-767-3p	CLIP-seq
MIRT2610855	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0003677	Function	DNA binding	IBA	21873635
GO:0003689	Function	DNA clamp loader activity	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9488738, 15655353, 16438930
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005663	Component	DNA replication factor C complex	IDA	9488738
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006261	Process	DNA-dependent DNA replication	TAS	8248204
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006296	Process	Nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	TAS
GO:0007004	Process	Telomere maintenance via telomerase	TAS	8954124
GO:0008047	Function	Enzyme activator activity	TAS	8954124
GO:0019904	Function	Protein domain specific binding	IEA
GO:0019985	Process	Translesion synthesis	TAS
GO:0031391	Component	Elg1 RFC-like complex	IDA	23277426
GO:0032201	Process	Telomere maintenance via semi-conservative replication	TAS
GO:0033683	Process	Nucleotide-excision repair, DNA incision	TAS
GO:0042276	Process	Error-prone translesion synthesis	TAS
GO:0042769	Process	DNA damage response, detection of DNA damage	TAS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0061860	Function	DNA clamp unloader activity	IBA	21873635
GO:0061860	Function	DNA clamp unloader activity	IMP	23277426
GO:0070062	Component	Extracellular exosome	HDA
GO:0070987	Process	Error-free translesion synthesis	TAS
GO:0090618	Process	DNA clamp unloading	IMP	23277426

Other IDs

• MIM: 102579
• HGNC: 9969
• e!Ensembl: ENSG00000035928

Protein

• UniProt ID: P35251
• Protein name: Replication factor C subunit 1 (Activator 1 140 kDa subunit) (A1 140 kDa subunit) (Activator 1 large subunit) (Activator 1 subunit 1) (DNA-binding protein PO-GA) (Replication factor C 140 kDa subunit) (RF-C 140 kDa subunit) (RFC140) (Replication factor C
• Protein function: Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA
• PDB: 2EBU, 2K6G, 2K7F, 6VVO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00533	BRCT	402 → 479	BRCA1 C Terminus (BRCT) domain	Family
  PF00004	AAA	647 → 776	ATPase family associated with various cellular activities (AAA)	Domain
  PF08519	RFC1	915 → 1068	Replication factor RFC1 C terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Wide tissue distribution. Undetectable in placental tissue.
• Sequence:

  MDIRKFFGVIPSGKKLVSETVKKNEKTKSDEETLKAKKGIKEIKVNSSRKEDDFKQKQPS
  KKKRIIYDSDSESEETLQVKNAKKPPEKLPVSSKPGKISRQDPVTYISETDEEDDFMCKK
  AASKSKENGRSTNSHLGTSNMKKNEENTKTKNKPLSPIKLTPTSVLDYFGTGSVQRSNKK
  MVASKRKELSQNTDESGLNDEAIAKQLQLDEDAELERQLHEDEEFARTLAMLDEEPKTKK
  ARKDTEAGETFSSVQANLSKAEKHKYPHKVKTAQVSDERKSYSPRKQSKYESSKESQQHS
  KSSADKIGEVSSPKASSKLAIMKRKEESSYKEIEPVASKRKENAIKLKGETKTPKKTKSS
  PAKKESVSPEDSEKKRTNYQAYRSYLNREGPKALGSKEIPKGAENCLEGLIFVITGVLES
  IERDEAKSLIERYGGKVTGNVSKKTNYLVMGRDSGQSKSDKAAALGTKIIDEDGLLNLIR
  TMPGKKSKYEIAVETEMKKESKLERTPQKNVQGKRKISPSKKESESKKSRPTSKRDSLAK
  TIKKETDVFWKSLDFKEQVAEETSGDSKARNLADDSSENKVENLLWVDKYKPTSLKTIIG
  QQGDQSCANKLLRWLRNWQKSSSEDKKHAAKFGKFSGKDDGSSFKAALLSGPPGVGKTTT
  ASLVCQELGYSYVELNASDTRSKSSLKAIVAESLNNTSIKGFYSNGAASSVSTKHALIMD
  EVDGMAGNEDRGGIQELIGLIKHTKIPIICMCNDRNHPKIRSLVHYCFDLRFQRPRVEQI
  KGAMMSIAFKEGLKIPPPAMNEIILGANQDIRQVLHNLSMWCARSKALTYDQAKADSHRA
  KKDIKMGPFDVARKVFAAGEETAHMSLVDKSDLFFHDYSIAPLFVQENYIHVKPVAAGGD
  MKKHLMLLSRAADSICDGDLVDSQIRSKQNWSLLPAQAIYASVLPGELMRGYMTQFPTFP
  SWLGKHSSTGKHDRIVQDLALHMSLRTYSSKRTVNMDYLSLLRDALVQPLTSQGVDGVQD
  VVALMDTYYLMKEDFENIMEISSWGGKPSPFSKLDPKVKAAFTRAYNKEAHLTPYSLQAI
  KASRHSTSPSLDSEYNEELNEDDSQSDEKDQDAIETDAMIKKKTKSSKPSKPEKDKEPRK
  GKGKSSKK

• Sequence length: 1148

Pathways

KEGG:

DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair

Reactome:

Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Polymerase switching on the C-strand of the telomere
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	rs747574524	30926972
Charcot-marie-tooth disease	Dejerine-Sottas Disease (disorder)	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	30926972
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	18926688
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hereditary motor and sensory neuropathy	Hereditary Motor and Sensory Neuropathies	rs1555365597, rs387906941, rs207482230, rs587778791, rs587778798, rs587777108, rs587780564, rs587777789, rs1566733927	30926972
Motor and sensory neuropathy	Hereditary, Type VII, Motor and Sensory Neuropathy	rs1571320137	30926972
Nystagmus	Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome			GenCC
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adrenoleukodystrophy	Associate	19353223
Alopecia	Associate	25599563
Amyotrophic lateral sclerosis 1	Associate	34537679
Arthritis Rheumatoid	Associate	25599563
Ataxia	Associate	32910249, 33495376, 33884451, 35001451, 35864213, 37578187, 38487929
Ataxia and Polyneuropathy Adult Onset	Associate	35864213
Atrophy	Associate	34927205
Autistic Disorder	Associate	20468076
Benign Paroxysmal Positional Vertigo	Associate	35502508, 38381176
Bilateral Vestibulopathy	Associate	30926972, 33884451, 33969391, 35502508, 36805468, 37460231, 38381176
Bronchiolitis Obliterans Syndrome	Associate	20574454
CANVAS syndrome	Associate	30926972, 31230722, 32851396, 32910249, 33103729, 33495376, 34537679, 34600502, 34927205, 35502508, 35864213, 36289003, 36805468, 37450567, 37853169, 38381906, 39231235, 40113266, 40461673
Carcinoma Hepatocellular	Associate	27782152, 27936032, 34022962
CD59 Deficiency	Associate	37853169
Cerebellar Ataxia	Associate	33884451, 33969391, 35502508, 36805468, 38487929
Cerebellar Diseases	Associate	34927205, 37460231, 38381176, 40461673
Charcot Marie Tooth Disease	Associate	34600502
Chorea	Associate	33495376
Cognition Disorders	Associate	34927205
Colorectal Neoplasms	Associate	25697897, 26193446
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	31297992
Congenital central hypoventilation syndrome	Associate	33684136
Congenital idiopathic intestinal pseudoobstruction	Associate	34927205
Conotruncal cardiac defects	Associate	24585533
Cough	Associate	33969391, 34927205, 38487929
Deglutition Disorders	Associate	38193360
Dementia Vascular	Associate	24554143
Demyelinating Diseases	Associate	37853169
Diabetes Mellitus Type 2	Associate	31797865
Disease	Associate	38193360
Down Syndrome	Associate	20868477
Drug Related Side Effects and Adverse Reactions	Associate	31617429
Dysarthria	Associate	37460231
Dystonia	Associate	33495376
Fasciculation	Associate	33103729
Glycoprotein Storage Disease	Associate	37853169
Graft vs Host Disease	Associate	20574454
Guillain Barre Syndrome	Associate	37853169
Head and Neck Neoplasms	Associate	23276522
Heart Defects Congenital	Associate	33684136
Hereditary Sensory and Autonomic Neuropathies	Associate	33884451, 33969391, 37853169
Hypokinesia	Stimulate	33495376
Immunoglobulin G4 Related Disease	Associate	37578187
Machado Joseph Disease	Associate	31230722
Melanoma	Associate	23659246
Multiple System Atrophy	Associate	33495376
Multiple system atrophy (MSA) with orthostatic hypotension	Associate	33495376
Muscle Spasticity	Associate	34927205
Muscular Atrophy Spinal	Associate	30926972, 34927205
Myotonic Dystrophy	Associate	40113266
Neoplasm Metastasis	Associate	34022962
Neoplasms	Associate	12509469, 34022962
Nerve Degeneration	Associate	34927205
Nervous System Diseases	Associate	33884451, 35864213, 38193360, 38487929
Neural Tube Defects	Associate	15060097
Neuralgia	Associate	38381176
Neuroblastoma	Associate	25536437
Neurologic Manifestations	Associate	39231235
Nystagmus Pathologic	Associate	33495376, 37460231, 38381176
Ovarian Neoplasms	Associate	26464638
Paraneoplastic Polyneuropathy	Associate	33969391
Parkinson Disease Secondary	Associate	34927205
Polycystic Ovary Syndrome	Associate	31482954
Polyneuropathies	Associate	33884451, 33969391, 37460231, 38381176
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	33969391
Postural Orthostatic Tachycardia Syndrome	Associate	33495376
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	31499477
Primary Dysautonomias	Associate	33495376, 34927205
Progeria	Associate	22168243
Prostatic Neoplasms	Associate	33414468
Reflex Abnormal	Associate	37460231
Sarcoma	Associate	35483337
Sjogren's Syndrome	Associate	33969391, 37853169
Spastic Ataxia	Associate	31230722
Spastic ataxia Charlevoix Saguenay type	Associate	31230722
Spinocerebellar Degenerations	Associate	30926972
Uterine Cervical Dysplasia	Associate	24089416
Uterine Cervical Neoplasms	Associate	19389243
Vestibular Diseases	Associate	34927205
Voice Disorders	Associate	33884451
West Nile Fever	Associate	21881118
Wilms Tumor	Associate	25536437